VACTERL Association

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report VACTERL Association is not the name you expected.

Disorder Subdivisions

None

General Discussion

VACTERL association is a nonrandom association of birth defects that affects multiple median and para-median structures. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected children:

Variability of such associations is wide and the relevance of each component usually varies by the observers. For this reason, from an original nucleus of "VATER" anomalies, the subsequent observation of an increased rate of heart malformations (C), non-radial limb anomalies (L) and single umbilical artery (S) expanded the phenotypic continuum grouping together all these conditions (i.e. VATER, VACTER, VACTERL and VACTERLS associations). At the moment, VACTERL association is the most frequently used term to define this condition. In addition, to the above mentioned features, affected children may also exhibit pre- and/or post-natal growth deficiency with failure to gain weight and grow at the expected rate (failure to thrive). Further low-frequency findings include facial asymmetry (hemifacialmicrosomia), external ear malformations, lung lobation defects, intestinal malrotation and genital anomalies. VATER/VACTERL features are more common in twinning. In some cases, the acronym VATER association is used. Mental functioning and intelligence is usually unaffected; developmental delay/mental retardation should suggest an alternative diagnosis. The cause of VACTERL association remains unknown in most cases and is likely heterogeneous. VACTERL association often occurs in a single individual in any given family (sporadic case).

Supporting Organizations

Birth Defect Research for Children, Inc.

976 Lake Baldwin Lane

Orlando, FL 32814

USA

Tel: (407)895-0802

Email: staff@birthdefects.org

Website: http://www.birthdefects.org

Cleft Lip and Palate Foundation of Smiles

2044 Michael Ave SW

Wyoming, MI 49509

Tel: (616)329-1335

Email: Rachelmancuso09@comcast.net

Website: http://www.cleftsmile.org

EA/TEF Child and Family Support Connection, Inc.

111 West Jackson Boulevard

Suite 1145

Chicago, IL 60604-3502

USA

Tel: (312)987-9085

Fax: (312)987-9086

Email: info@eatef.org

Website: http://www.eatef.org

Fetal Hope Foundation

9786 South Holland Street

Littleton, CO 80127

USA

Tel: (303)932-0553

Tel: (877)789-4673

Email: info@fetalhope.org

Website: http://www.fetalhope.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

March of Dimes

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Email: AskUs@marchofdimes.org or preguntas@nacersano.org

Website: http://www.marchofdimes.org and nacersano.org

Oley Foundation

43 New Scotland Ave., MC-28

Albany Medical Center

Albany, NY 12208-3478

USA

Tel: (518)262-5079

Fax: (518)262-5528

Tel: (800)776-6539

Email: dahlr@mail.amc.edu

Website: http://www.oley.org

Pull-Thru Network

1705 Wintergreen Parkway

Normal, IL 61761

USA

Tel: (309)262-2930

Email: PullthruNetwork@gmail.com

Website: http://www.PullthruNetwork.org

Tracheo Oesophageal Fistula Support

St. George's Centre

91 Victory Road

Nottingham, NG4 2NN

United Kingdom

Tel: 4401159613092

Fax: 4401159613097

Email: info@tofs.org.uk

Website: http://www.tofs.org.uk

VATER Connection Support

Email: angie@vaterconnection.org

Website: http://www.thevaterconnection.com/index.asp

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 5/26/2015Copyright 2015 National Organization for Rare Disorders, Inc.

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